Fetal omphalocele and gastroschisis: a review of 24 cases

Fetal omphalocele and gastroschisis are congenital defects of the abdominal wall that require prompt surgical management at the time of delivery. To evaluate the role of prenatal sonography in identifying factors that influence prognosis, 24 cases of abdominal-wall defect (16 omphalocele, eight gastroschisis) were reviewed. Sonograms were evaluated for location of umbilical cord insertion, contents of the ventral defect, presence or absence of a covering membrane, fetal ascites, bowel-wall thickening, and coexisting anomalies. Sonographic differentiation between omphalocele and gastroschisis was possible in 18 (75%) of 24 cases. Eighteen patients had congenital defects in addition to the abdominal-wall defect. Associated abnormalities were present in 14 (88%) of 16 fetuses with omphalocele and four (50%) of eight with gastroschisis. Overall survival rate was 50%, excluding six terminated pregnancies. Survival rate was 33% for neonates with omphalocele and 83% for those with gastroschisis. The better prognosis for neonates with gastroschisis appears to reflect the lower frequency of associated congenital anomalies.     

A fetal autopsy case of body stalk anomaly

Body stalk anomaly (BSA) is a sporadic polymalformative syndrome incompatible with extrauterine life. In utero detection of BSA by two-dimensional and three-dimensional ultrasonography and magnetic resonance imaging has been well documented. We herein describe a case of body stalk anomaly diagnosed at autopsy. The fetus had a large anterior midline abdominal wall defect with eventration of the visceral organs into the amnio-peritoneal sac and a completely absent umbilical cord. The associated anomalies included club foot, absent diaphragm, genitourinary, and gastrointestinal defects. The observed congenital anomalies supported the theory of embryonic dysgenesis as the etiologic factor. One of the major objectives in the performance of fetal autopsy is to be able to detect abnormalities that can have implications in future pregnancies. Despite the negligible familial recurrence rate of the broad spectrum of anomalies associated with this abdominal wall defect, the present case of fetal autopsy indeed delights to serve the living.     

MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy

Congenital abdominal wall defects include several entities such as gastroschisis, omphalocele, and cloacal exstrophy. It is important for perinatal management and parental counseling to understand the magnetic resonance (MR) imaging features essential for correctly diagnosing the clinical condition and predicting the prognosis of fetal patients. The purpose of this pictorial review is to demonstrate the MR imaging features of fetal cases with an abdominal wall defect and the pitfalls of image findings.     

超声五切面在筛查胎儿先天性心脏病中的临床价值

目的探讨超声五切面(UAT、4C、LVOT、RVOT和3VT)在产前筛查胎儿先天性心脏病中的临床价值。方法采用超声五切面对9237例孕16～41周胎儿进行心脏超声筛查,发现心血管异常或可疑异常,即进行详细的胎儿超声心动图检查。将产前超声检查结果与引产后尸解结果和产后超声心动图检查结果进行对照分析。结果 9237例胎儿产前超声诊断胎儿先天性心脏病38例,其中4例(10.53%,4/38)合并其它心内畸形,11例(28.95%,11/38)合并心外畸形。胎儿心脏畸形在五切面上的产前超声图像特征包括腹部大血管位置异常、心尖指向异常、非四腔心结构、四腔心不对称、室间隔缺损、冠状静脉窦扩张、室壁增厚、心腔占位、胸部大血管连接、数目、位置、瓣膜和内径比例异常、房室瓣反流、穿隔血流、主、肺动脉弓血流反向。38例胎儿心脏畸形均经病理解剖或产后随访验证,其中36例与产前诊断结果符合,1例法洛四联症误诊为永存动脉干,1例主动脉弓缩窄胎儿经产后超声心动图复查正常。漏诊3例,包括2例室间隔缺损和1例房间隔缺损。超声五切面筛查胎儿先心病的敏感度为90.24%,特异度为100%。结论超声五切面在产前筛查胎儿先天性心脏病中具有重要的临床价值,能够筛查出大多数的先心病,但对部分室间隔缺损和房间隔缺损易漏诊。     

胎儿体蒂异常的MRI表现及病理对照

目的:探讨胎儿体蒂异常的MRI表现及诊断价值.方法:对5例超声诊断体蒂异常的胎儿于3天内行MRI检查,3例在我院引产后回顾分析其MRI表现并行病理对照,2例在外院引产.结果:5例胎儿MRI均显示有复杂畸形,5例均有较大的胸腹壁或腹壁缺损、内脏器官疝入羊膜腔、脊柱异常及脊柱侧后弯、脐带无或过短伴单脐动脉.5例分别并发其它...     

Persistent right umbilical vein: an ominous prenatal finding?

The persistence of a right umbilical vein is an uncommon finding, with only a dozen cases reported since 1826. The persistent right umbilical vein may replace the normal left umbilical vein or be supernumerary. The anomaly is associated with numerous and occasionally lethal malformations. In this series, only three of six fetuses (and another two in the literature) had no associated anomalies. All the others had a variety of associated lesions ranging from minor to lethal. The appearance at ultrasound is easy to recognize: The intrahepatic portion of the umbilical vein is lateral to the gallbladder, and the portal vein curves toward the stomach, instead of parallel to it. Since the recognition of the persistent right umbilical vein is simple and does not require additional scanning (it is visible in the section used to measure the abdominal perimeter), the author suggests using it as an indicator for more in-depth scanning.     

超声诊断胎儿先天性消化道异常及腹壁缺损的价值

目的　评价超声诊断胎儿先天性消化道异常及腹壁缺损的价值。方法　对美国加州一产前诊断中心 5年中超声发现的13 6例消化道异常及 41例腹壁缺损的孕妇检查结果进行声像图特点分析。结果　发现 13 6例消化道异常中 ,食管闭锁 9例 ,十二指肠闭锁 19例 ,空肠闭锁 12例 ,强回声小肠 68例 ,胎粪性腹膜炎 19例 ,膈疝 9例。 41例腹壁缺损中 ,腹裂 11例 ,脐疝 18例 ,羊膜带综合征 12例 ,各类型有其特异声像图表现 ,其特征与其胚胎发育过程异常相关。结论　超声能准确地发现各种畸形 ,在诊断胎儿先天性消化道异常及腹壁缺损中有重要价值     

胆囊穿孔的CT诊断及鉴别诊断(附12例分析)

目的 探讨胆囊穿孔的CT诊断及鉴别诊断.方法 12例经临床手术病理证实的胆囊穿孔患者的CT表现征象进行回顾性分析.结果 胆囊穿孔CT表现包括胆囊壁的改变、胆囊周围和右上腹腔的异常、肝脏内的异常密度.胆囊壁的特征性改变表现为连续性中断或局限性缺损、膨出.胆囊周围和有上腹的异常包括胆囊窝积液及右上腹包裹性积液,肌囊周围脂肪间隙密度增高或条索状影,胆囊邻近器官的改变.肝脏内异常灶表现为肝脓肿形成,胆囊与肝脓肿之间有通道.结论 螺旋CT能显示穿孔的胆囊壁连续性中断或局限性缺损,以及胆囊穿孔周围病变特征,为临床诊断和治疗提供可靠的影像学依据.     

Amniography in prenatal diagnosis

The increasing use of prenatal diagnostic methods, including sonography and amniotic fluid analysis, has made it possible to suspect certain fetal defects at an early gestational age. In selected cases, accurate diagnosis of the specific malformation may have an effect on fetal and neonatal prognosis, and on prenatal counseling of the parents. As part of a large regional screening program for neural tube defects, we performed 28 midtrimester amniograms. We found 14 neural tube defects (nine spina bifida, four anencephaly, one Meckel syndrome), four abdominal wall defects, two tumors, and eight normal examinations. Radiographic examples of these malformations are presented, including previously undescribed findings in meningomyeloceles. The place of amniography in prenatal diagnosis is discussed.     

Evaluation of pulmonary hypoplasia with congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm with herniation of abdominal viscera into the thorax. The morbidity and mortality in cases is caused primarily by pulmonary hypoplasia. A prenatal diagnosis of CDH can be established by ultrasound, but ultrasound cannot detect pulmonary hypoplasia with certainty. We evaluated pulmonary hypoplasia by the simple method of lung intensity. The subjects were eight fetuses. In four fetuses, the lungs showed low intensity, and these fetuses all had pulmonary hypoplasia. Two of the four fetuses with high intensity showed a good prognosis, however, the other two fetuses did not. One of the two cases with poor prognosis had complex congenital heart disease, and the other died of sepsis and pulmonary hypertension. A high signal did not always promise a favorable prognosis, probably because accompanying abnormalities dominated the prognosis. MR assessment of lung intensity in fetuses with CDH may be useful in evaluating the severity of pulmonary hypoplasia. Low signal of the lung may reflect pulmonary hypoplasia and suggests a poor prognosis.     

Cardiovascular manifestations of heterotaxy and related situs abnormalities assessed with CT angiography

Heterotaxy and situs abnormalities describe an abnormal arrangement of visceral organs in the thoracoabdominal cavity across the normal left–right axis of the body. It is associated with a high occurrence of congenital heart and abdominal defects, including anomalous pulmonary venous connections, systemic venous abnormalities, asplenia, and intestinal malrotation. Without proper diagnosis and surgical intervention, the prognosis of patients with heterotaxy syndrome and associated congenital defects is extremely poor. Complex intracardiac and extracardiac lesions are common in heterotaxy and can be difficult to assess by echocardiography. CT angiography (CTA) is a useful tool in this setting to accurately assess intracardiac and extracardiac abnormalities in this population for medical or surgical management. The intention of this pictorial essay is to review the most common cardiovascular defects involved with heterotaxy syndrome in addition to emphasizing the utility of CTA in the identification and classification of anomalies seen in these patients. This review briefly defines most common terminology used in situs abnormalities as well as presents CT images and 3-dimensional reconstructions of common anomalies associated with situs abnormalities. In summary, this review should prepare radiologists and pediatric cardiologists to describe heterotaxy and situs abnormalities in addition to recognizing the utility of CTA in these patients.     

Pyelocalyceal diverticulum: the imaging spectrum with emphasis on the ultrasound features

Clinical and imaging data of 11 patients with pyelocalyceal diverticulum were retrospectively examined. Four patients suffered from ipsilateral flank pain, one from recurrent urinary tract infection and the other six from unrelated symptoms. All patients underwent ultrasound as the initial imaging study. In two cases ultrasound was the only examination performed. Additional imaging studies were obtained in the other nine patients (abdominal radiography in six cases, intravenous urography (IVU) in five and CT in four). Ultrasound suggested the diagnosis of pyelocalyceal diverticulum in eight cases owing to the presence of echogenic and mobile material within the cyst-like lesion. In three cases the ultrasound appearance was similar and indistinguishable from a simple cyst and the diagnosis was made by another imaging study IVU in two cases and CT in one). We suggest that ultrasound examination is the best imaging method for the diagnosis of a pyelocalyceal diverticulum, and no further imaging modalities are required when mobile echogenic material is seen. In uncertain cases, another relatively inexpensive imaging study should be added such as abdominal radiography or IVU.     

Mayer-Rokitansky-Kuster-Hauser syndrome: US aid to diagnosis

The Mayer-Rokitansky-Kuster-Hauser syndrome is composed of vaginal atresia with other variable Müllerian duct abnormalities such as bicornuate or septated uterus. The fallopian tubes, ovaries, and broad and round ligaments are normal. Unilateral renal and skeletal anomalies are associated in 50% and 12% of cases, respectively. Patients have a normal female karyotype and normal secondary sexual development. Previously, one had to rely on radiographic contrast studies and surgical exploration for accurate definition of the reproductive tract anatomy. The authors performed ultrasound (US) examinations on 12 patients, aged 5 days to 18 years, with the Mayer-Rokitansky syndrome. US allowed correct identification of the genitourinary anomalies found in these girls, including eight cases of unilateral renal agenesis; one absent, one rudimentary, and ten duplicated or obstructed uteri; eight duplicated or obstructed vaginas; and associated complications such as endometriosis. Eight of the patients had lower abdominal pain, often cyclical in nature. The findings demonstrate that high-resolution, real-time US in conjunction with water vaginography permits the anatomy of these complex anomalies to be defined.     

彩超诊断腹壁子宫内膜异位症的临床价值

目的：评价彩色多普勒超声在诊断腹壁子宫内膜异位症上的临床应用价值。方法：回顾分析25例经手术病理和腹壁结节穿刺活检确诊的腹壁子宫内膜异位症病人的二维声像图及彩色多普勒超声表现。结果：25例病例除1例外均在腹壁各层发现结节或肿块,深者达腹腔网膜;其中1例结节位于切口上方约20mm,肿块大小在9—51mm,形态不规则,边缘呈毛刺样或伪足样,内为不均质低回声,经期出现蜂窝状结构,大多后方伴有衰减,彩色多普勒显示有19例病例结节周边或内部有散在的点状和短条状血流信号,动脉频谱呈低速高阻改变。其中有5例病例合并有卵巢子宫内膜异位囊肿。结论：彩色多普勒超声检查腹壁子宫内膜异位症有特征性改变,结合病史、临床表现对于诊断该病有重要的临床应用价值,并可对临床治愈病灶提供帮助。     

Septate versus bicornuate uteri: errors in imaging diagnosis

Since two müllerian defects, the septate and bicornuate uteri, are no longer repaired by means of the same operative approach, an accurate preoperative diagnosis of these anomalies is now critical. A septum can be removed by means of hysteroscopic metroplasty. However, repair of a bicornuate uterus still requires abdominal surgery. Hysterosalpingography (HSG) has been the primary diagnostic modality for müllerian defects. On the basis of 63 patients, HSG findings alone, as interpreted by the radiologist, had a diagnostic accuracy of 55%. When this was supplemented with a gynecologic evaluation, the diagnostic accuracy improved to only 62.5%. However, when a diagnostic protocol that include ultrasound (US) examination with HSG was used for evaluating müllerian defects, the diagnostic accuracy improved to 90%, with all errors being noncritical. Therefore, it is concluded that HSG alone is not adequate to make the distinction between a septate and a bicornuate uterus unless the angle of divergence of two straight uterine cavities is 75 degrees or less, indicating a septate uterus. Luteal-phase US is frequently necessary to distinguish between these anomalies or to diagnose them in combination.     

Acute mesenteric ischemia: Value of cross-sectional imaging

Acute mesenteric ischemia (AMI) is a life-threatening emergency with prognosis directly correlated with the delay in diagnosis and treatment. Clinical and laboratory findings are nonspecific and it is imperative to look for findings of AMI on CT and ultrasound examinations performed in patients with acute abdomen. Arterial and venous ischemia are different entities with different clinical and imaging features, treatment and prognosis. The main causes of AMI are arterial thromboembolic disease and low-flow state. Venous ischemia is less frequent. Due to its high reported sensitivity (90%), CT should be performed as a firstline imaging modality when AMI is suspected. CT and ultrasound imaging features of AMI include: bowel wall thickness and enhancement abnormalities, pneumatosis, portal venous gas, demonstration of intravascular thrombus, bowel dilatation and ascitis.     

Ultrasound changes in sclerosing peritonitis following continuous ambulatory peritoneal dialysis

Sclerosis of the peritoneum, with encapsulation of the small bowel is one of the most serious complications of continuous ambulatory peritoneal dialysis (CAPD), and carries a high mortality. The abnormalities seen on ultrasound are described for 14 patients and comprise increased small bowel peristalsis, tethering of the bowel to the posterior abdominal wall, intraperitoneal echogenic strands and, in the late stages of the disease, membrane formation. Optimal visualization of these features in the early stages of the disease was obtained by examining the patients with dialysis fluid present in the abdomen. Sclerosing peritonitis should be suspected in patients being treated by CAPD who develop abdominal pain and progressive loss of ultrafiltration and subsequent investigation should include the use of ultrasound.